Canonical Allele Identifier: CA338444824

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025595G>T (hg19) ; chr1:g.11965538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965538G>T , CM000663.2:g.11965538G>T	GRCh38
NC_000001.10:g.12025595G>T , CM000663.1:g.12025595G>T	GRCh37
NC_000001.9:g.11948182G>T	NCBI36
NG_008159.1:g.35850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1529G>T MANE Select	ENSP00000196061.4:p.Ser510Ile
ENST00000196061.4:c.1529G>T	ENSP00000196061.4:p.Ser510Ile
ENST00000470133.1:n.143G>T
ENST00000491536.5:n.157G>T
NM_000302.3:c.1529G>T	NP_000293.2:p.Ser510Ile
NM_001316320.1:c.1670G>T	NP_001303249.1:p.Ser557Ile
XM_011541594.1:c.1610G>T	XP_011539896.1:p.Ser537Ile
XM_024447707.1:c.863G>T	XP_024303475.1:p.Ser288Ile
NM_000302.4:c.1529G>T MANE Select	NP_000293.2:p.Ser510Ile
NM_001316320.2:c.1670G>T	NP_001303249.1:p.Ser557Ile